-transparent.png){kind=logo}
GM1 gangliosidosis is a genetic disease with lysosomal beta-galactosidase deficiency caused by mutations of the gene coding for this enzyme. However, apparently normal enzyme activity was found in plasma or serum from juvenile GM1 gangliosidosis patients homozygous for a mutation, R201C (201Arg-->Cys), after clotting for 30 min. This extracellular fluid finding is unusual in patients with primary and genetic deficiency of beta-galactosidase. The serum enzyme activity became relatively low only after 3 1/2-hour clotting because its increase in normal controls was not observed in these patients. beta-Galactosidase assay is not always reliable, particularly with serum or plasma as an enzyme source, for the diagnosis of hereditary beta-galactosidase deficiency, unless it is conducted under well-controlled conditions.
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
October 1978,
Acta neurologica Scandinavica,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
April 1988,
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
February 1974,
Pediatric research,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
September 1974,
Archives of neurology,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
November 1974,
American journal of human genetics,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
July 1973,
Research in veterinary science,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
May 1986,
The Journal of biological chemistry,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
January 1998,
Ryoikibetsu shokogun shirizu,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
January 2005,
Journal of inherited metabolic disease,
N Ishii, and
A Oshima, and
H Sakuraba, and
Y Fukuyama, and
Y Suzuki
October 1993,
American journal of human genetics,
